Guidelines

Diagnostic Guidelines

Summary

The most common emergency department clinical presentation is acute abdominal pain. Other features may include seizures, confusion and hallucinations, and a progressive polyaxonal motor neuropathy, which can progress to paralysis and respiratory failure requiring a ventilator.

A high index of suspicion in the presence of nonspecific symptoms is important for diagnosis. A family history of porphyria, female gender, onset during the luteal phase of the menstrual cycle, or recent use of a porphyrinogenic drug may be diagnostic clues.

A new diagnosis of porphyria as the cause of acute symptoms must be substantiated by finding a substantial increase in urine porphobilinogen (PBG).

Recommendations for the diagnosis and treatment of acute porphyrias [3]

Summary

Acute porphyrias are rare and therefore evidence is based on case series and clinical experience rather than controlled studies. This review is based on the recommendations of a panel of experts on diagnosis and treatment.

Treatment Guidelines

Summary

Treatment should start promptly after the diagnosis is made. Mild attacks are sometimes treated with glucose loading (e.g., 3 liters of 10% glucose daily by vein). Most acute attacks should be treated with hemin (Panhematin®) 3-4 mg/kg into a large peripheral vein or venous access port daily for 4 days.

Reconstituting Panhematin® with human serum albumin rather than sterile water is recommended before infusion. This helps prevent phlebitis at the site of intravenous infusion.

Admission to the hospital is usually required for symptomatic treatment of pain, nausea, and vomiting, correction of electrolyte imbalance, and observation for respiratory impairment, either to a general medical service or to the ICU.

Recommendations for the diagnosis and treatment of acute porphyrias [3]

Summary

Acute porphyrias are rare and therefore evidence is based on case series and clinical experience rather than controlled studies. This review is based on the recommendations of a panel of experts on diagnosis and treatment.